Base-Calling of Automated Sequencer Traces Using Phred. II. Error Probabilities
Open accessAbstract
Elimination of the data processing bottleneck in high-throughput sequencing will require both improved accuracy of data processing software and reliable measures of that accuracy. We have developed and implemented in our base-calling program phred the ability to estimate a probability of error for each base-call, as a function of certain parameters computed from the trace data. These error probabilities are shown here to be valid (correspond to actual error rates) and to have high power to discriminate correct base-calls from incorrect ones, for read data collected under several different chemistries and electrophoretic conditions. They play a critical role in our assembly program phrap and our finishing program consed.
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The inferred sequence accuracy in the muskox assembly coding regions is not less than 99.99910%, corresponding to a Phred score of not less than 50.4839.
“yields an inferred sequence accuracy in the assembly of not less than 99.99910%, corresponding to a Phred score54 of no less than 50.4839 in these coding regions.”
From Chromosomal-level reference genome assembly of muskox (Ovibos moschatus) from Banks Island in the Canadian Arctic, a resource for conservation genomics (2024) · cites this paper as [54]
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Base-Calling of Automated Sequencer Traces Using Phred. I. Accuracy AssessmentPreprint
Ewing, B., Hillier, L., Wendl, M. C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.175 · Cited by 6,993 · see citing works
Self-citationConsed: a graphical tool for sequence finishing.Preprint
Gordon, D., Abajian, C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.195 · Cited by 3,706 · see citing works
Self-citationLee, L. G., Connell, C. R., Woo, S. L., Cheng, R. D., McArdle, B. F., Fuller, C. W., Halloran, N. D., & Wilson, R. K. (1992) · Nucleic Acids Research · doi:10.1093/nar/20.10.2471 · Cited by 170 · see citing works
AmpliTaq ® DNA Polymerase, FS Dye-Terminator Sequencing: Analysis of Peak Height Patterns
Parker, L., Zakeri, H., Deng, Q., Spurgeon, S. L., Kwok, P., & Nickerson, D. A. (1996) · BioTechniques · doi:10.2144/96214rr02 · Cited by 83 · see citing works
An adaptive, object oriented strategy for base calling in DNA sequence analysis
Giddings, M. C., Brumley, R. L., Haker, M., & Smith, L. M. (1993) · Nucleic Acids Research · doi:10.1093/nar/21.19.4530 · Cited by 51 · see citing works
Assignment of position-specific error probability to primary DNA sequence data
Lawrence, C. B., & Solovyev, V. V. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.7.1272 · Cited by 40 · see citing works
A graph theoretic approach to the analysis of DNA sequencing data.Preprint
Berno, A. J. (1996) · Genome Research · doi:10.1101/gr.6.2.80 · Cited by 40 · see citing works
Golden, J. B., Torgersen, D. L., & Tibbetts, C. (1993) · PubMed · Cited by 27 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216 · see citing works
Ultrafast and memory-efficient alignment of short DNA sequences to the human genome.
Langmead, B., Trapnell, C., Pop, M., & Salzberg, S. L. (2009) · Genome Biology · doi:10.1186/gb-2009-10-3-r25 · Cited by 21,849 · see citing works
The sequence of the human genome
Venter, J. C., Adams, M. D., Myers, E. W., Li, P. W., Mural, R. J., Sutton, G. G., Smith, H. O., Yandell, M., Evans, C. A., Holt, R. A., et al. (2001) · Science · doi:10.1126/science.1058040 · Cited by 13,909 · see citing works
A framework for variation discovery and genotyping using next-generation DNA sequencing data
DePristo, M. A., Banks, E., Poplin, R. E., Garimella, K. V., Maguire, J., Hartl, C., Philippakis, A., del Angel, G., Rivas, M. A., Hanna, M., et al. (2011) · Nature Genetics · doi:10.1038/ng.806 · Cited by 11,216 · see citing works
Canu: scalable and accurate long-read assembly via adaptive k -mer weighting and repeat separationPreprint
Koren, S., Walenz, B. P., Berlin, K., Miller, J. R., Bergman, N. H., & Phillippy, A. M. (2017) · Genome Research · doi:10.1101/gr.215087.116 · Cited by 7,340 · see citing works
Base-Calling of Automated Sequencer Traces Using Phred. I. Accuracy AssessmentPreprint
Ewing, B., Hillier, L., Wendl, M. C., & Green, P. (1998) · Genome Research · doi:10.1101/gr.8.3.175 · Cited by 6,993 · see citing works
Self-citation<scp>bold</scp> : The Barcode of Life Data System (http://www.barcodinglife.org)
RATNASINGHAM, S., & HEBERT, P. D. N. (2007) · Molecular Ecology Notes · doi:10.1111/j.1471-8286.2007.01678.x · Cited by 6,376 · see citing works
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183 · see citing works
CAP3: A DNA Sequence Assembly Program
Huang, X., & Madan, A. (1999) · Genome Research · doi:10.1101/gr.9.9.868 · Cited by 5,261 · see citing works
Next-generation DNA sequencing
Shendure, J., & Ji, H. (2008) · Nature Biotechnology · doi:10.1038/nbt1486 · Cited by 4,509 · see citing works
A Draft Sequence of the Rice Genome ( Oryza sativa L. ssp. indica )
Yu, J. M., Hu, S., Wang, J., Wong, G. K., Liu, B., Liu, B., Deng, Y., Dai, L., Zhou, Y., Zhang, X., et al. (2002) · Science · doi:10.1126/science.1068037 · Cited by 4,205 · see citing works
Accurate whole human genome sequencing using reversible terminator chemistry
Bentley, D. R., Balasubramanian, S., Swerdlow, H. P., Smith, G. P., Milton, J., Brown, C. G., Hall, K. P., Evers, D. J., Barnes, C. L., Bignell, H. R., et al. (2008) · Nature · doi:10.1038/nature07517 · Cited by 3,684 · see citing works
CADD: predicting the deleteriousness of variants throughout the human genome
Rentzsch, P., Witten, D., Cooper, G. M., Shendure, J., & Kircher, M. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1016 · Cited by 3,534 · see citing works
The Consensus Coding Sequences of Human Breast and Colorectal Cancers
Sjöblom, T., Jones, S., Wood, L. D., Parsons, D. W., Lin, J., Barber, T. D., Mandelker, D. L., Leary, R. J., Ptak, J., Silliman, N., et al. (2006) · Science · doi:10.1126/science.1133427 · Cited by 3,161 · see citing works
Mapping short DNA sequencing reads and calling variants using mapping quality scores
Li, H., Ruan, J., & Durbin, R. (2008) · Genome Research · doi:10.1101/gr.078212.108 · Cited by 2,638 · see citing works
Dethlefsen, L., Huse, S., Sogin, M. L., & Relman, D. A. (2008) · PLoS Biology · doi:10.1371/journal.pbio.0060280 · Cited by 2,361 · see citing works
Evaluation of 16S rRNA gene sequencing for species and strain-level microbiome analysis
Johnson, J. S., Spakowicz, D. J., Hong, B., Petersen, L., Demkowicz, P. C., Chen, L., Leopold, S. R., Hanson, B., Agresta, H. O., Gerstein, M., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-13036-1 · Cited by 2,286 · see citing works
An integrated semiconductor device enabling non-optical genome sequencing
Rothberg, J. M., Hinz, W., Rearick, T. M., Schultz, J., Mileski, W., Davey, M. S., Leamon, J. H., Johnson, K., Milgrew, M. J., Edwards, M. M., et al. (2011) · Nature · doi:10.1038/nature10242 · Cited by 2,187 · see citing works
Chun, J., Lee, J., Jung, Y., Kim, M., Kim, S., Kim, B. K., & Lim, Y. (2007) · INTERNATIONAL JOURNAL OF SYSTEMATIC AND EVOLUTIONARY MICROBIOLOGY · doi:10.1099/ijs.0.64915-0 · Cited by 2,096 · see citing works
Targeted capture and massively parallel sequencing of 12 human exomes
Ng, S. B., Turner, E. H., Robertson, P. D., Flygare, S. D., Bigham, A. W., Lee, C., Shaffer, T., Wong, M., Bhattacharjee, A., Eichler, E. E., et al. (2009) · Nature · doi:10.1038/nature08250 · Cited by 2,030 · see citing works
Sex differences in the gut microbiome drive hormone-dependent regulation of autoimmunity
Markle, J. G. M., Frank, D. N., Mortin-Toth, S., Robertson, C. E., Feazel, L. M., Rolle-Kampczyk, U., von Bergen, M., McCoy, K. D., Macpherson, A. J., & Danska, J. S. (2013) · Science · doi:10.1126/science.1233521 · Cited by 2,025 · see citing works
Stacks: Building and Genotyping Loci De Novo From Short-Read Sequences
Catchen, J., Amores, A., Hohenlohe, P. A., Cresko, W. A., & Postlethwait, J. H. (2011) · G3 Genes Genomes Genetics · doi:10.1534/g3.111.000240 · Cited by 1,920 · see citing works
Cock, P., Fields, C. J., Goto, N., Heuer, M., & Rice, P. M. (2009) · Nucleic Acids Research · doi:10.1093/nar/gkp1137 · Cited by 1,896 · see citing works
The complete genome of an individual by massively parallel DNA sequencing
Wheeler, D. A., Srinivasan, M., Egholm, M., Shen, Y., Chen, L., McGuire, A., He, W., Chen, Y.-J., Makhijani, V., Roth, G. T., et al. (2008) · Nature · doi:10.1038/nature06884 · Cited by 1,838 · see citing works
Fadrosh, D. W., Ma, B., Gajer, P., Sengamalay, N., Ott, S., Brotman, R. M., & Ravel, J. (2014) · Microbiome · doi:10.1186/2049-2618-2-6 · Cited by 1,698 · see citing works
BOLD : The Barcode of Life Data System (www.barcodinglife.org)
Ratnasingham, S., & Ebert, P. D. N. H. (2007) · Cited by 1,676 · see citing works
Bullard, J. H., Purdom, E., Hansen, K. D., & Dudoit, S. (2010) · BMC Bioinformatics · doi:10.1186/1471-2105-11-94 · Cited by 1,680 · see citing works
“quality scores for the other seven lanes [[15], Supplementary Information, p. 7]. Bustard can also be run using the auto-calibration method, which scores basecalls in a manner similar to the phred base-caller [ 17 ] and does not require a control lane per flow-cell.”
MethodCarlson, C. S., Eberle, M. A., Rieder, M. J., Qian, Y., Kruglyak, L., & Nickerson, D. A. (2004) · The American Journal of Human Genetics · doi:10.1086/381000 · Cited by 1,578 · see citing works
Yano, M., Katayose, Y., Ashikari, M., Yamanouchi, U., Monna, L., Fuse, T., Baba, T., Yamamoto, K., Umehara, Y., Nagamura, Y., et al. (2000) · The Plant Cell · doi:10.1105/tpc.12.12.2473 · Cited by 1,608 · see citing works
High-quality draft assemblies of mammalian genomes from massively parallel sequence data
Gnerre, S., Maccallum, I., Przybylski, D., Ribeiro, F. J., Burton, J., Walker, B. J., Sharpe, T., Hall, G., Shea, T., Sykes, S., et al. (2010) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.1017351108 · Cited by 1,647 · see citing works
Genotype and SNP calling from next-generation sequencing data
Nielsen, R., Paul, J. S., Albrechtsen, A., & Song, Y. S. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2986 · Cited by 1,396 · see citing works
Metagenomic and functional analysis of hindgut microbiota of a wood-feeding higher termite
Warnecke, F., Luginbühl, P., Ivanova, N., Ghassemian, M., Richardson, T. H., Stege, J. T., Cayouette, M., McHardy, A. C., Djordjevic, G., Aboushadi, N., et al. (2007) · Nature · doi:10.1038/nature06269 · Cited by 1,351 · see citing works
Ironing out the wrinkles in the rare biosphere through improved OTU clustering
Huse, S. M., Welch, D. M., Morrison, H. G., & Sogin, M. L. (2010) · Environmental Microbiology · doi:10.1111/j.1462-2920.2010.02193.x · Cited by 1,346 · see citing works
Performance comparison of benchtop high-throughput sequencing platforms
Loman, N. J., Misra, R., Dallman, T. J., Constantinidou, C., Gharbia, S. E., Wain, J. R., & Pallen, M. J. (2012) · Nature Biotechnology · doi:10.1038/nbt.2198 · Cited by 1,334 · see citing works
Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
Choi, M., Scholl, U. I., Ji, W., Liu, T., Tikhonova, I. R., Zumbo, P., Nayır, A., Bakkaloğlu, A., Özen, S., Sanjad, S. A., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910672106 · Cited by 1,327 · see citing works
Accuracy and quality of massively parallel DNA pyrosequencing
Huse, S. M., Huber, J. A., Morrison, H. G., Sogin, M. L., & Welch, D. B. M. (2007) · Genome biology · doi:10.1186/gb-2007-8-7-r143 · Cited by 1,285 · see citing works
Topographic diversity of fungal and bacterial communities in human skin
NIH Intramural Sequencing Center Comparative Sequencing Program, Findley, K., Oh, J., Yang, J., Conlan, S., Deming, C., Meyer, J. A., Schoenfeld, D., Nomicos, E., Park, M., et al. (2013) · Nature · doi:10.1038/nature12171 · Cited by 1,206 · see citing works
Applications of next-generation sequencing technologies in functional genomics
Morozova, O., & Marra, M. A. (2008) · Genomics · doi:10.1016/j.ygeno.2008.07.001 · Cited by 1,190 · see citing works
The ribosomal database project (RDP-II): introducing myRDP space and quality controlled public data
Cole, J. R., Chai, B., Farris, R. J., Wang, Q., Kulam-Syed-Mohideen, A. S., McGarrell, D. M., Bandela, A. M., Cardenas, E., Garrity, G. M., & Tiedje, J. M. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl889 · Cited by 1,171 · see citing works
Assembly algorithms for next-generation sequencing data
Miller, J. R., Koren, S., & Sutton, G. G. (2010) · Genomics · doi:10.1016/j.ygeno.2010.03.001 · Cited by 1,156 · see citing works
A Draft Sequence for the Genome of the Domesticated Silkworm ( Bombyx mori )
Biology analysis group, Xia, Q., Zhou, Z., Lu, C., Cheng, D., Dai, F., Li, B., Zhao, P., Zha, X., Cheng, T., et al. (2004) · Science · doi:10.1126/science.1102210 · Cited by 1,121 · see citing works
Ashley, E. A. (2016) · Nature Reviews Genetics · doi:10.1038/nrg.2016.86 · Cited by 1,116 · see citing works
Genome Sequence Assembly Using Trace Signals and Additional Sequence Information.
Chevreux, B., Wetter, T. C., & Suhai, S. (1999) · Cited by 1,047 · see citing works
A review on SNP and other types of molecular markers and their use in animal genetics
Alain Vignal, A., Denis Milan, A., SanCristobal, M., & Eggen, A. A. (2002) · Genetics Selection Evolution · doi:10.1186/1297-9686-34-3-275 · Cited by 1,043 · see citing works
NAST: a multiple sequence alignment server for comparative analysis of 16S rRNA genes
DeSantis, T. Z., Hugenholtz, P., Keller, K., Brodie, E., Larsen, N., Piceno, Y. M., Phan, R., & Andersen, G. L. (2006) · Nucleic Acids Research · doi:10.1093/nar/gkl244 · Cited by 1,028 · see citing works
Exploring Microbial Diversity and Taxonomy Using SSU rRNA Hypervariable Tag Sequencing
Huse, S. M., Dethlefsen, L., Huber, J. A., Welch, D. B. M., Relman, D. A., & Sogin, M. L. (2008) · PLoS Genetics · doi:10.1371/journal.pgen.1000255 · Cited by 993 · see citing works
An RNA gene expressed during cortical development evolved rapidly in humans
Pollard, K. S., Salama, S. R., Lambert, N., Lambot, M.-A., Coppens, S., Pedersen, J. S., Katzman, S., King, B., Onodera, C., Siepel, A., et al. (2006) · Nature · doi:10.1038/nature05113 · Cited by 1,005 · see citing works
Sensitive tumour detection and classification using plasma cell-free DNA methylomes
Shen, S. Y., Singhania, R., Fehringer, G., Chakravarthy, A., Roehrl, M. H. A., Chadwick, D., Zuzarte, P. C., Borgida, A., Wang, T. T., Li, T., et al. (2018) · Nature · doi:10.1038/s41586-018-0703-0 · Cited by 983 · see citing works
Grisart, B., Coppieters, W. R., Farnir, F., Karim, L., Ford, C. A., Berzi, P., Cambisano, N., Mni, M., Reid, S. J., Simon, P., et al. (2002) · Genome Research · doi:10.1101/gr.224202 · Cited by 967 · see citing works
A window into third-generation sequencing
Schadt, E. E., Turner, S., & Kasarskis, A. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq416 · Cited by 960 · see citing works
SNP detection for massively parallel whole-genome resequencing
Li, R., Li, Y., Fang, X., Yang, H., Wang, J., Kristiansen, K., & Wang, J. (2009) · Genome Research · doi:10.1101/gr.088013.108 · Cited by 944 · see citing works
The Genome Sequence of Caenorhabditis briggsae: A Platform for Comparative Genomics
Stein, L. D., Bao, Z., Blasiar, D., Blumenthal, T., Brent, M. R., Chen, N., Chinwalla, A., Clarke, L., Clee, C. M., Coghlan, A., et al. (2003) · PLoS Biology · doi:10.1371/journal.pbio.0000045 · Cited by 931 · see citing works
An Apolipoprotein Influencing Triglycerides in Humans and Mice Revealed by Comparative Sequencing
Pennacchio, L. A., Olivier, M., Hubacek, J. A., Cohen, J. C., Cox, D. R., Fruchart, J.-C., Krauss, R. M., & Rubin, E. M. (2001) · Science · doi:10.1126/science.1064852 · Cited by 921 · see citing works
Defining operational taxonomic units using DNA barcode data
Blaxter, M., Mann, J., Chapman, T. W., Thomas, F., Whitton, C., Floyd, R., & Abebe, E. (2005) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2005.1725 · Cited by 885 · see citing works
The BDGP Gene Disruption Project
Bellen, H. J., Levis, R. W., Liao, G., He, Y., Carlson, J. W., Tsang, G., Evans-Holm, M. E., Hiesinger, P. R., Schulze, K. L., Rubin, G. M., et al. (2004) · Genetics · doi:10.1534/genetics.104.026427 · Cited by 864 · see citing works
Banks, J., Nishiyama, T., Hasebe, M., Bowman, J., Gribskov, M., dePamphilis, C., Albert, V. A., Aono, N., Aoyama, T., Ambrose, B. A., et al. (2011) · Science · doi:10.1126/science.1203810 · Cited by 796 · see citing works
A tale of two clades: monkeypox viruses
Likos, A. M., Sammons, S. A., Olson, V. A., Frace, A. M., Li, Y., Olsen-Rasmussen, M. A., Davidson, W., Galloway, R. L., Khristova, M. L., Reynolds, M. G., et al. (2005) · Journal of General Virology · doi:10.1099/vir.0.81215-0 · Cited by 856 · see citing works
Next-Generation Sequencing: From Basic Research to Diagnostics
Voelkerding, K. V., Dames, S. A., & Durtschi, J. (2009) · Clinical Chemistry · doi:10.1373/clinchem.2008.112789 · Cited by 846 · see citing works
Mosher, D. S., Quignon, P., Bustamante, C. D., Sutter, N. B., Mellersh, C. S., Parker, H. G., & Ostrander, E. A. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030079 · Cited by 826 · see citing works
Ramirez-Farias, C., Slezak, K., Fuller, Z., Duncan, A., Holtrop, G., & Louis, P. (2008) · British Journal of Nutrition · doi:10.1017/s0007114508019880 · Cited by 822 · see citing works
RNA Viral Community in Human Feces: Prevalence of Plant Pathogenic Viruses
Zhang, T., Breitbart, M., Lee, W. H., Run, J., Wei, C. L., Soh, S. W., Hibberd, M. L., Liu, E. T., Rohwer, F. L., & Ruan, Y. (2005) · PLoS Biology · doi:10.1371/journal.pbio.0040003 · Cited by 799 · see citing works
Bentley, D. (2006) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2006.10.009 · Cited by 805 · see citing works
Tamoxifen and Breast Cancer Incidence Among Women With Inherited Mutations in BRCA1 and BRCA2
King, M. (2001) · JAMA · doi:10.1001/jama.286.18.2251 · Cited by 776 · see citing works
Propionibacterium acnes Strain Populations in the Human Skin Microbiome Associated with Acne
Fitz‐Gibbon, S. T., Tomida, S., Chiu, B.-H., Nguyen, L., Du, C., Liu, M., Elashoff, D. A., Erfe, M. C. B., Loncaric, A., Kim, J., et al. (2013) · Journal of Investigative Dermatology · doi:10.1038/jid.2013.21 · Cited by 777 · see citing works
Chandler, J., Lang, J., Bhatnagar, S., Eisen, J. A., & Kopp, A. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1002272 · Cited by 754 · see citing works
Larimer, F. W., Chain, P., Hauser, L., Lamerdin, J. E., Malfatti, S., Do, L. H., Land, M., Pelletier, D. A., Beatty, J. T., Lang, A. S., et al. (2003) · Nature Biotechnology · doi:10.1038/nbt923 · Cited by 767 · see citing works
Rumen Microbial Population Dynamics during Adaptation to a High-Grain Diet
Fernando, S. C., Purvis, H. T., Najar, F. Z., Sukharnikov, L. O., Krehbiel, C. R., Nagaraja, T. G., Roe, B. A., & DeSilva, U. (2010) · Applied and Environmental Microbiology · doi:10.1128/aem.00388-10 · Cited by 759 · see citing works
Molecular barcodes for soil nematode identification
Floyd, R., Abebe, E., Papert, A., & Blaxter, M. (2002) · Molecular Ecology · doi:10.1046/j.1365-294x.2002.01485.x · Cited by 750 · see citing works
Proteomics: the first decade and beyond
Patterson, S. D., & Aebersold, R. H. (2003) · Nature Genetics · doi:10.1038/ng1106 · Cited by 745 · see citing works
Widespread genome duplications throughout the history of flowering plantsPreprint
Cui, L., Wall, P. K., Leebens‐Mack, J., Lindsay, B. G., Soltis, P. S., Doyle, J. J., Soltis, P. S., Carlson, J. E., Arumuganathan, K., Barakat, A., et al. (2006) · Genome Research · doi:10.1101/gr.4825606 · Cited by 738 · see citing works
Nurk, S., Walenz, B. P., Rhie, A., Vollger, M. R., Logsdon, G. A., Grothe, R., Miga, K. H., Eichler, E. E., Phillippy, A. M., & Koren, S. (2020) · Genome Research · doi:10.1101/gr.263566.120 · Cited by 709 · see citing works
Bayesian inference of population size history from multiple loci
Heled, J., & Drummond, A. J. (2008) · BMC Evolutionary Biology · doi:10.1186/1471-2148-8-289 · Cited by 739 · see citing works
An SNP map of the human genome generated by reduced representation shotgun sequencing
Altshuler, D., Pollara, V. J., Cowles, C. R., Etten, W. J. V., Baldwin, J., Linton, L., & Lander, E. S. (2000) · Nature · doi:10.1038/35035083 · Cited by 725 · see citing works
A Mutation in PRKAG3 Associated with Excess Glycogen Content in Pig Skeletal Muscle
Denis Milan, A., Jeon, J., Looft, C., Amarger, V., Robic, A., Thelander, M., Rogel-Gaillard, C., Paul, S., Iannuccelli, N., Rask, L., et al. (2000) · Science · doi:10.1126/science.288.5469.1248 · Cited by 717 · see citing works
Genome sequence of Halobacterium species NRC-1
Ng, W. V., Kennedy, S., Mahairas, G. G., Berquist, B. R., Pan, M., Shukla, H. D., Lasky, S. R., Baliga, N. S., Thórsson, V., Sbrogna, J. L., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.190337797 · Cited by 706 · see citing works
Impey, S., McCorkle, S., Cha‐Molstad, H., Dwyer, J. M., Yochum, G. S., Boss, J. M., McWeeney, S. K., Dunn, J. J., Mandel, G., & Goodman, R. H. (2004) · Cell · doi:10.1016/j.cell.2004.10.032 · Cited by 695 · see citing works
High‐throughput DNA sequencing – concepts and limitations
Kircher, M., & Kelso, J. F. (2010) · BioEssays · doi:10.1002/bies.200900181 · Cited by 675 · see citing works
An initial map of insertion and deletion (INDEL) variation in the human genome
Mills, R. E., Luttig, C. T., Larkins, C. E., Beauchamp, A., Tsui, C., Pittard, W. S., & Devine, S. E. (2006) · Genome Research · doi:10.1101/gr.4565806 · Cited by 673 · see citing works
Functional annotation of a full-length mouse cDNA collection
Kawai, J., Shinagawa, A., Shibata, K., Yoshino, M., Itoh, M., Ishii, Y., Arakawa, T., Hara, A., Fukunishi, Y., Konno, H., et al. (2001) · Nature · doi:10.1038/35055500 · Cited by 665 · see citing works
The Genome Sequence of Silkworm, Bombyx mori
Mita, K. (2004) · DNA Research · doi:10.1093/dnares/11.1.27 · Cited by 659 · see citing works
Francioli, L. C., Menelaou, A., Pulit, S. L., Elbers, C. C., Kloosterman, W. P., van Setten, J., Nijman, I. J., Renkens, I., de Bakker, P. I. W., van Dijk, F., et al. (2014) · Nature Genetics · doi:10.1038/ng.3021 · Cited by 642 · see citing works
The Schistosoma japonicum genome reveals features of host–parasite interplay
Zhou, Y., Zheng, H., Chen, Y., Zhang, L., Wang, K., Guo, J., Huang, Z., Zhang, B., Huang, W., Liu, F., et al. (2009) · Nature · doi:10.1038/nature08140 · Cited by 658 · see citing works
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Saunders, C., Miller, N. A., Soden, S., Dinwiddie, D., Noll, A., Alnadi, N. A., Andraws, N., Patterson, M., Krivohlavek, L., Fellis, J., et al. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3004041 · Cited by 645 · see citing works
Rapid gene mapping in Caenorhabditis elegans using a high density polymorphism map
Wicks, S. R., Yeh, R. T., Gish, W. R., Waterston, R., & Plasterk, R. H. A. (2001) · Nature Genetics · doi:10.1038/88878 · Cited by 649 · see citing works
Urban aerosols harbor diverse and dynamic bacterial populations
Brodie, E., DeSantis, T. Z., Parker, J. M., Zubieta, I. X., Piceno, Y. M., & Andersen, G. L. (2006) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0608255104 · Cited by 642 · see citing works
CREBBP mutations in relapsed acute lymphoblastic leukaemia
Mullighan, C. G., Zhang, J., Kasper, L. H., Lerach, S., Payne-Turner, D., Phillips, L. A., Heatley, S. L., Holmfeldt, L., Collins-Underwood, J. R., Ma, J., et al. (2011) · Nature · doi:10.1038/nature09727 · Cited by 628 · see citing works
Bickhart, D. M., Rosen, B. D., Koren, S., Sayre, B. L., Hastie, A. R., Chan, S., Lee, J., Lam, E. T., Liachko, I., Sullivan, S. T., et al. (2017) · Nature Genetics · doi:10.1038/ng.3802 · Cited by 620 · see citing works
Qu, S., Liu, G., Zhou, B., Bellizzi, M. D. R., Zeng, L., Dai, L., Han, B., & Wang, G. (2005) · Genetics · doi:10.1534/genetics.105.044891 · Cited by 628 · see citing works
The Wolbachia genome of Brugia malayi: Endosymbiont evolution within a human pathogenic \nnematode
Foster, J. M., Ganatra, M. B., Kamal, I. H., Ware, J., Makarova, K. S., Ivanova, N., Bhattacharyya, A., Kapatral, V., Kumar, S., Pósfai, J., et al. (2005) · eScholarship (California Digital Library) · Cited by 626 · see citing works
AdapterRemoval: easy cleaning of next-generation sequencing reads
Lindgreen, S. (2012) · BMC Research Notes · doi:10.1186/1756-0500-5-337 · Cited by 622 · see citing works
Smith, J. J., Kuraku, S., Holt, C., Sauka‐Spengler, T., Jiang, N., Campbell, M. S., Yandell, M. D., Manousaki, T., Meyer, A., Bloom, O., et al. (2013) · Nature Genetics · doi:10.1038/ng.2568 · Cited by 618 · see citing works
Ren, S., Fu, G., Jiang, X., Zeng, R., Miao, Y., Xu, H., Zhang, Y., Xiong, H., Lü, G., Lu, L.-F., et al. (2003) · Nature · doi:10.1038/nature01597 · Cited by 613 · see citing works
The White Spot Syndrome Virus DNA Genome Sequence
van Hulten, M. C. W., Witteveldt, J., Peters, S., Kloosterboer, N., Tarchini, R., Fiers, M. W. E. J., Sandbrink, H., Lankhorst, R. K., & Vlak, J. M. (2001) · Virology · doi:10.1006/viro.2001.1002 · Cited by 609 · see citing works
Computational analysis of bacterial RNA-Seq data
McClure, R., Balasubramanian, D., Sun, Y., Bobrovskyy, M., Sumby, P., Genco, C. A., Vanderpool, C. K., & Tjaden, B. C. (2013) · Nucleic Acids Research · doi:10.1093/nar/gkt444 · Cited by 584 · see citing works
Protein interaction mapping: ADrosophilacase studyPreprint
Formstecher, É., Aresta, S., Collura, V., Hamburger, A., Meil, A., Trehin, A., Reverdy, C., Betin, V. M. S., Maire, S., Brun, C., et al. (2005) · Genome Research · doi:10.1101/gr.2659105 · Cited by 581 · see citing works
CNV-seq, a new method to detect copy number variation using high-throughput sequencing
Xie, C., & Tammi, M. T. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-80 · Cited by 582 · see citing works
Two levels of protection for the B cell genome during somatic hypermutation
Liu, M., Duke, J. L., Richter, D. J., Vinuesa, C. G., Goodnow, C. C., Kleinstein, S. H., & Schatz, D. G. (2008) · Nature · doi:10.1038/nature06547 · Cited by 574 · see citing works
A general approach to single-nucleotide polymorphism discovery
Marth, G., Korf, I. F., Yandell, M. D., Yeh, R. T., Gu, Z., Zakeri, H., Stitziel, N. O., Hillier, L., Kwok, P., & Gish, W. R. (1999) · Nature Genetics · doi:10.1038/70570 · Cited by 573 · see citing works
Hallam, S., Mincer, T. J., Schleper, C., Preston, C. M., Roberts, K., Richardson, P. M., & DeLong, E. F. (2006) · PLoS Biology · doi:10.1371/journal.pbio.0040095 · Cited by 572 · see citing works
Blaxter, M. (2004) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2003.1447 · Cited by 563 · see citing works
- Authors
- Ewing, B., & Green, P.
- Affiliations
- University of Washington (US)
- Venue
- Genome Research
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 1998-03-01
- Volume
- 8
- Issue
- 3
- Pages
- 186-194
- ISSN
- 1088-9051 (ISSN-L)
- 1549-5469
- OpenAlex
- W2119923823
- Cited by
- 5,439
- References
- 8
- Citations by year
- 2026: 56 · 2025: 88 · 2024: 84 · 2023: 86 · 2022: 115 · 2021: 157 · 2020: 141 · 2019: 128 · 2018: 132 · 2017: 176 · 2016: 190 · 2015: 215 · 2014: 275 · 2013: 301 · 2012: 289
- Type
- posted content
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Genome Research (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Human Genome Research Institute
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Phylogenetic Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fractal and DNA sequence analysis
- Physical Sciences › Computer Science › Artificial Intelligence › Algorithms and Data Compression
- Keywords
- base calling, error probability estimation, next-generation sequencing, sequencing accuracy, genome assembly
- MeSH terms
- Base Sequence, Chimera, Cloning, Molecular, Data Interpretation, Statistical, Genetic Vectors, Humans, Probability, Quality Control, Software, Reproducibility of Results, Discriminant Analysis, Human Genome Project, Sequence Analysis, DNA
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